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Article

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

European journal of medical genetics - 1 Jan 2015

Stephen Joshi, Girisha Katta Mohan, Dalal Ashwin, Shukla Anju, Shah Hitesh, Srivastava Priyanka, Kornak Uwe, Phadke Shubha R

Abstract excerpt

Osteogenesis imperfecta (OI) is a spectrum of genetic disorders with decreased bone density and bone fragility. Most of the cases of OI are inherited in autosomal dominant fashion with mutations in COL1A1 or COL1A2 genes. Over last few years, twelve genes for autosomal recessive OI have been identified. In this study we have evaluated seven patients with OI from consanguineous Indian families. Homozygosity...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25450603
DOI: 10.1016/j.ejmg.2014.10.001

Genes

CRTAP
PPIB
SERPINF1
WNT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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